A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10996952



Internal ID6621144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:45501795..45510569hg38UCSC Ensembl
Innerchr3:45501796..45510568hg38UCSC Ensembl
Outerchr3:45501794..45510570hg38UCSC Ensembl
chr3:45543287..45552061hg19UCSC Ensembl
Innerchr3:45543288..45552060hg19UCSC Ensembl
Outerchr3:45543286..45552062hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg388775
hg198775
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596051
Supporting Variants
SamplesNA20786
Known GenesLARS2, LARS2-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10996952
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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